Mutagenetix > Incidental Mutation

Incidental Mutation 'R2154:Stxbp1'

234588

Institutional Source

Beutler Lab

Gene Symbol

Stxbp1

Ensembl Gene

ENSMUSG00000026797

Gene Name

syntaxin binding protein 1

Synonyms

Rb-sec1, Munc18-1, Munc-18a, Sxtbp1, Unc18h, N-sec1, nsec1

MMRRC Submission

040157-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.563) question?

Stock #

R2154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32787602-32847245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32802856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 383 (I383F)

Ref Sequence

ENSEMBL: ENSMUSP00000089051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050000] [ENSMUST00000077458]

AlphaFold

O08599

Predicted Effect

probably damaging
Transcript: ENSMUST00000050000
AA Change: I383F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: I383F

Domain	Start	End	E-Value	Type
Pfam:Sec1	28	582	9.8e-152	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000077458
AA Change: I383F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: I383F

Domain	Start	End	E-Value	Type
Pfam:Sec1	29	581	2.8e-110	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113222

SMART Domains

Protein: ENSMUSP00000108848
Gene: ENSMUSG00000026797

Domain	Start	End	E-Value	Type
Pfam:Sec1	1	419	1.7e-106	PFAM

Meta Mutation Damage Score

0.7092

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit total loss of neurotransmitter secretion from synaptic vesicles throughout development and massive neuron apoptosis after initial synaptogenesis, leading to widespread neurodegeneration and complete neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,455,115	E363G	probably benign	Het
Abca3	A	G	17: 24,377,719	Y382C	probably damaging	Het
Abca5	A	G	11: 110,292,174	I1019T	probably benign	Het
Acox3	A	T	5: 35,605,224	S481C	probably damaging	Het
Ankrd7	T	A	6: 18,870,031	M261K	probably benign	Het
Aqr	A	C	2: 114,137,004	M510R	probably damaging	Het
Arpc1a	A	T	5: 145,092,559	T56S	probably benign	Het
Asap2	A	T	12: 21,112,083	T14S	probably damaging	Het
Aspg	A	G	12: 112,120,974	E288G	probably benign	Het
Atp2c2	A	G	8: 119,756,102	N901S	probably benign	Het
Cabcoco1	A	G	10: 68,431,262	L205P	probably damaging	Het
Cant1	A	G	11: 118,411,437	L18P	probably damaging	Het
Cdca2	G	A	14: 67,676,976	P945S	probably damaging	Het
Cfap74	A	G	4: 155,429,296	K522E	possibly damaging	Het
Chek1	C	A	9: 36,723,983	V35F	probably damaging	Het
Cpa6	A	T	1: 10,337,322	M330K	probably damaging	Het
Creb3l4	G	T	3: 90,238,485	N246K	probably damaging	Het
Cyp2c55	T	A	19: 39,034,375	V319D	probably damaging	Het
Dapk1	T	A	13: 60,729,503	S519T	probably benign	Het
Dhx38	T	C	8: 109,560,674	S221G	probably benign	Het
Dis3l	T	A	9: 64,307,263	N981I	probably benign	Het
Dock4	T	A	12: 40,820,662	V1467E	probably damaging	Het
Dock4	ACCTGCTCTGCC	ACCTGCTCTGCCTGCTCTGCC	12: 40,844,548		probably benign	Het
Dok5	G	A	2: 170,800,896	G38D	probably damaging	Het
Ercc6l2	T	C	13: 63,866,007	S631P	probably damaging	Het
Fat4	A	T	3: 38,887,539	S194C	probably damaging	Het
Fuk	T	A	8: 110,889,072	T542S	probably benign	Het
Garem2	T	C	5: 30,108,299	S54P	probably damaging	Het
Gdf10	T	C	14: 33,934,389	I436T	probably damaging	Het
Gfod1	T	C	13: 43,303,470	T10A	possibly damaging	Het
Gucy1a1	A	G	3: 82,111,151		probably null	Het
Heatr5b	G	T	17: 78,831,444	Q90K	probably benign	Het
Ikzf3	T	A	11: 98,485,649	K211*	probably null	Het
Itgam	A	C	7: 128,085,577	D373A	probably damaging	Het
Itpripl2	A	G	7: 118,489,884	F484S	probably damaging	Het
Kat6b	A	T	14: 21,668,667	H1138L	probably benign	Het
Kif16b	T	C	2: 142,690,580	K1213R	probably damaging	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Mmp25	T	A	17: 23,631,074	Y504F	probably damaging	Het
Mtf2	A	G	5: 108,080,931	K38E	possibly damaging	Het
Myh14	A	C	7: 44,652,429		probably null	Het
Nedd4l	T	A	18: 65,210,330	H820Q	probably damaging	Het
Nfkb1	T	C	3: 135,601,479	T562A	probably benign	Het
Olfr913	G	T	9: 38,594,411	L63F	probably damaging	Het
Pds5a	A	T	5: 65,650,498	V464E	probably damaging	Het
Peak1	C	T	9: 56,207,212	V452M	probably damaging	Het
Phf2	T	C	13: 48,820,073	Y372C	unknown	Het
Poc1a	T	A	9: 106,285,574		probably null	Het
Prss33	C	T	17: 23,834,843	V87M	probably damaging	Het
Psmc2	C	G	5: 21,803,129	L344V	possibly damaging	Het
Ptpn12	C	A	5: 21,002,468	Q297H	probably damaging	Het
Rabgap1	T	C	2: 37,475,441	V242A	probably damaging	Het
Rad1	C	A	15: 10,486,635	H39Q	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,985	H636R	probably benign	Het
Samd9l	C	T	6: 3,372,945	D1439N	possibly damaging	Het
Sbno1	A	T	5: 124,378,511	D1266E	probably benign	Het
Sidt2	T	C	9: 45,945,340	D477G	probably damaging	Het
Slc22a13	T	C	9: 119,208,687	K125R	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Slmap	A	G	14: 26,418,247	Y771H	probably damaging	Het
Smg1	A	T	7: 118,158,076		probably benign	Het
Spinkl	A	T	18: 44,169,127	N32K	probably benign	Het
Taf3	C	T	2: 9,951,566	E597K	possibly damaging	Het
Tln2	T	C	9: 67,302,560	T432A	probably damaging	Het
Tmco6	T	C	18: 36,741,687	V409A	probably benign	Het
Tstd2	T	C	4: 46,129,235	T198A	probably damaging	Het
Vmn1r230	T	A	17: 20,846,801	M84K	probably damaging	Het
Vmn1r45	T	A	6: 89,933,983	S2C	possibly damaging	Het
Vmn2r25	T	A	6: 123,839,846	T259S	probably benign	Het
Vmn2r70	A	G	7: 85,563,715	S495P	possibly damaging	Het
Vmn2r97	A	T	17: 18,947,322	R613*	probably null	Het
Yme1l1	T	C	2: 23,162,508	L58P	probably damaging	Het
Zan	G	A	5: 137,414,249		probably benign	Het
Zfhx4	A	G	3: 5,401,741	T2320A	possibly damaging	Het
Zfp407	T	C	18: 84,209,649	D1945G	possibly damaging	Het

Other mutations in Stxbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01989:Stxbp1	APN	2	32812064	missense	probably benign	0.00
IGL02743:Stxbp1	APN	2	32819901	missense	probably damaging	0.98
volume	UTSW	2	32801893	missense	probably damaging	0.99
volume2	UTSW	2	32801883	missense	possibly damaging	0.95
P0021:Stxbp1	UTSW	2	32823538	missense	probably damaging	0.96
R0217:Stxbp1	UTSW	2	32801870	missense	possibly damaging	0.69
R0269:Stxbp1	UTSW	2	32802783	missense	probably damaging	1.00
R0285:Stxbp1	UTSW	2	32823542	missense	probably benign	0.00
R0335:Stxbp1	UTSW	2	32802905	splice site	probably benign
R0565:Stxbp1	UTSW	2	32819848	missense	probably benign	0.07
R0617:Stxbp1	UTSW	2	32802783	missense	probably damaging	1.00
R0690:Stxbp1	UTSW	2	32800695	splice site	probably benign
R1022:Stxbp1	UTSW	2	32814967	splice site	probably null
R1024:Stxbp1	UTSW	2	32814967	splice site	probably null
R1295:Stxbp1	UTSW	2	32794636	missense	probably benign	0.18
R1296:Stxbp1	UTSW	2	32794636	missense	probably benign	0.18
R1472:Stxbp1	UTSW	2	32794636	missense	probably benign	0.18
R1699:Stxbp1	UTSW	2	32800617	missense	probably damaging	0.99
R1744:Stxbp1	UTSW	2	32806719	critical splice donor site	probably null
R2004:Stxbp1	UTSW	2	32798189	missense	probably damaging	0.99
R2151:Stxbp1	UTSW	2	32802856	missense	probably damaging	1.00
R2153:Stxbp1	UTSW	2	32802856	missense	probably damaging	1.00
R5170:Stxbp1	UTSW	2	32794674	missense	probably benign	0.01
R6083:Stxbp1	UTSW	2	32796018	missense	possibly damaging	0.95
R6295:Stxbp1	UTSW	2	32794609	missense	probably damaging	0.98
R6504:Stxbp1	UTSW	2	32801883	missense	possibly damaging	0.95
R6770:Stxbp1	UTSW	2	32819889	missense	probably benign	0.01
R6954:Stxbp1	UTSW	2	32801893	missense	probably damaging	0.99
R7283:Stxbp1	UTSW	2	32815014	missense	probably damaging	1.00
R7382:Stxbp1	UTSW	2	32798168	missense	probably damaging	1.00
R7541:Stxbp1	UTSW	2	32818505	missense	probably damaging	0.99
R7734:Stxbp1	UTSW	2	32801820	missense	probably benign	0.00
R8364:Stxbp1	UTSW	2	32806762	missense	possibly damaging	0.72
R8462:Stxbp1	UTSW	2	32817281	splice site	probably null
R9143:Stxbp1	UTSW	2	32798145	missense	probably damaging	0.99
R9246:Stxbp1	UTSW	2	32789574	missense	possibly damaging	0.85
R9267:Stxbp1	UTSW	2	32818505	missense	probably damaging	1.00
R9501:Stxbp1	UTSW	2	32802813	missense	probably benign	0.00
R9600:Stxbp1	UTSW	2	32811108	missense	possibly damaging	0.80
RF010:Stxbp1	UTSW	2	32821915	missense	probably benign	0.06
X0060:Stxbp1	UTSW	2	32802768	missense	probably damaging	1.00
Z1177:Stxbp1	UTSW	2	32802754	missense	probably null	1.00
Z1177:Stxbp1	UTSW	2	32809128	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGCATCTGCACTGTTCG -3'
(R):5'- TTTGGAAGGACTCTCAGGGCTC -3'

Sequencing Primer
(F):5'- ATCTGCACTGTTCGCTCTCTG -3'
(R):5'- AGGATTCTATGTCAGCCCGATGC -3'

Posted On

2014-10-01